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Your search keyword '"Antinolo, Guillermo"' showing total 18 results
Start Over Author "Antinolo, Guillermo" Publication Type Academic Journals
18 results on '"Antinolo, Guillermo"'

4. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

Author

Borrego, Salud, Wright, Fred A., Fernandez, Raquel M., Williams, Nita, Lopez-Alonso, Manuel, Davuluri, Ramana, Antinolo, Guillermo, and Eng, Charis

Subjects
Hirschsprung's disease -- Physiological aspects, Hirschsprung's disease -- Genetic aspects, Thyroid cancer -- Physiological aspects, Thyroid cancer -- Genetic aspects, Biological sciences
Published
2003

5. EYS Is a Major Gene for Rod-cone Dystrophies in France

Author

Audo, Isabelle, Sahel, José-Alain, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Nandrot, Emeline F., Doumanov, Jordan, Barragan, Isabel, Antinolo, Guillermo, Bhattacharya, Shomi S., and Zeitz, Christina

Published
2010
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6. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

Author

Ruiz, Agustin, Borrego, Salud, Araneta, Irene, and Antinolo, Guillermo

Subjects
Spain -- Health aspects, Genetic disorders -- Research, Chromosome mapping -- Usage, Retinitis pigmentosa -- Genetic aspects, Biological sciences
Abstract

A major locus for autosomal recessive retinitis pigmentosa (arRP) has been identified on 6q between markers D6S257 and D6S1644. It was established by homozygosity mapping in inbred families of chromosomal regions containing gamma-aminobutyric acid-receptor clusters. RP has extensive allelic and nonallelic genetic herogeneity. It appears that 10-20% of Spanish families affected by typical arRP may have linkage to the new locus. Of the cases of the disease in Spain, 47% present autosomal recessive inheritance.

Published
1998

7. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

Author

Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., Stockton, David W., Rammesmayer, Gabriele, Lupski, James R., Antinolo, Guillermo, Ayuso, Carmen, Baiget, Montserrat, Gouras, Peter, Heckenlively, John R., den Hollander, Anneke, Jacobson, Samuel G., Lewis, Richard A., Sieving, Paul A., Wissinger, Bernd, Yzer, Suzanne, Zrenner, Eberhart, Utermann, Gerd, and Gal, Andreas

Published
2005

13. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Author

Miano, Maria Giuseppina, Testa, Francesco, Strazzullo, Maria, Trujillo, Mariajose, De Bernardo, Carmelilia, Grammatico, Barbara, Simonelli, Francesca, Mangino, Massimo, Torrente, Isabella, Ruberto, Giulio, Beneyto, Magdalena, Antinolo, Guillermo, Rinaldi, Ernesto, Danesino, Cesare, Ventruto, Valerio, D'Urso, Michele, Ayuso, Carmen, Baiget, Monserrat, and Ciccodicola, Alfredo

Subjects
GENETIC mutation, RETINITIS pigmentosa, GUANOSINE triphosphatase
Abstract

The RPGR (retinitis pigmentosa GTPase regulator) gene has been shown to be mutated in 10-20% of patients with X-linked retinitis pigmentosa (XLRP), a severe form of inherited progressive retinal degeneration. A total of 29 different RPGR mutations have been identified in northern European and United States patients. We have performed mutation analysis of the RPGR gene in a cohort of 49 southern European males affected with XLRP. By multiplex SSCA and automatic direct sequencing of all 19 RPGR exons, seven different and novel mutations were identified in eight of the 49 families; these include three splice site mutations, two microdeletions, and two missense mutations. RNA analysis showed that the three splice site defects resulted in the generation of aberrant RPGR transcripts. Six of these mutations were detected in the conserved amino-terminal region of RPGR protein, containing tandem repeats homologous to the RCC1 protein, a guanine nucleotide-exchange factor for RanGTPase. Several exonic and intronic sequence variations were also detected. None of the RPGR mutations reported in other populations were identified in our series. Our results are consistent with the notions of heterogeneity and minority causation of XLRP by mutations in RPGR in Caucasian populations. [ABSTRACT FROM AUTHOR]

Published
1999
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15. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Author

Abd El-Aziz, Mai M, Barragan, Isabel, O'Driscoll, Ciara A, Goodstadt, Leo, Prigmore, Elena, Borrego, Salud, Mena, Marcela, Pieras, Juan I, El-Ashry, Mohamed F, Safieh, Leen Abu, Shah, Amna, Cheetham, Michael E, Carter, Nigel P, Chakarova, Christina, Ponting, Chris P, Bhattacharya, Shomi S, and Antinolo, Guillermo

Subjects
DROSOPHILA, GENETIC mutation, RETINITIS pigmentosa, CHROMOSOMES, LABORATORY rodents, GENES
Abstract

Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved from Drosophila to man and is likely to have a role in the modeling of retinal architecture. [ABSTRACT FROM AUTHOR]

Published
2008
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17. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Author

Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., Stockton, David W., Rammesmayer, Gabriele, Lupski, James R., Antinolo, Guillermo, Ayuso, Carmen, Baiget, Montserrat, Gouras, Peter, Heckenlively, John R., den Hollander, Anneke, Jacobson, Samuel G., Lewis, Richard A., Sieving, Paul A., Wissinger, Bernd, and Yzer, Suzanne

Published
2006
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18. The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer.

Author

Fernandez RM, Robledo M, Antinolo G, Pecina A, Ruiz-Llorente S, Eng C, and Borrego S

Subjects
Cohort Studies, Humans, Introns genetics, Multiple Endocrine Neoplasia Type 2a genetics, Proto-Oncogene Proteins c-ret, Brain Stem Neoplasms genetics, Genetic Variation, Oncogene Proteins genetics, Receptor Protein-Tyrosine Kinases genetics, Thyroid Neoplasms genetics
Published
2004
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